GCA
grancalcin
Summary
This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Known Variants5 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1057524257 | 2:163,174,544 | C/T | missense variant | pathogenic |
| rs3788964 | 2:163,207,480 | T/C | intron variant | — |
| rs17783344 | 2:163,208,893 | T/G | missense variant | — |
| rs2468154943 | 2:163,213,295 | A/C | — | uncertain significance |
| rs984971 | 2:163,224,521 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.